Linked Data
dbSNP Id:
rs11575812
gnomAD v2:
4-123371049-A-G
gnomAD v3:
4-122449894-A-G
gnomAD v4:
4-122449894-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122449894A>G , CM000666.2:g.122449894A>G | GRCh38 |
| NC_000004.11:g.123371049A>G , CM000666.1:g.123371049A>G | GRCh37 |
| NC_000004.10:g.123590499A>G | NCBI36 |
| NG_016779.1:g.11602T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017008177.1:c.352-335T>C | XP_016863666.1:n.352-335T>C |